A woman in her early 60s presented to our Movement Disorders Centre with a 5-year history of progressive peripheral neuropathy gait instability with falls blurred vision cognitive impairment and tremors. a compound heterozygous mutation in the POLG1 gene consistent with the diagnosis of Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome. Background Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome is a rare mitochondrial inherited disorder that can present early to late in life1 and can MK-0752 be associated with multiorgan dysfunction2 requiring a collaborative effort among multiple specialties to effectively manage an affected patient. This particular case is of importance as it highlights difficulties in diagnosing the syndrome which in our patient was originally due to diabetic peripheral neuropathy or Parkinson’s disease with autonomic dysfunction. Case presentation A woman in her early 60s with medical history significant for diabetes mellitus 2 congestive heart failure hypothyroidism hypertension depressive disorder with psychotic features and gastric bypass surgery presented to the Movements Disorders Clinic as a referral from a local neurologist for evaluation of several chronic neurological problems including gait difficulties cognitive impairment ophthalmoplegia resting tremor and peripheral neuropathy. Her family history was unremarkable for known neurological problems. Five years prior to this presentation the patient had experienced shooting pains and numbness in her lower extremities. As time progressed the pain and sensation loss began to involve her upper extremities. Given her history of diabetes she was diagnosed with diabetic MK-0752 neuropathy and was treated symptomatically with topiramate and gabapentin. Approximately 1?year after this diagnosis she developed occasional rectal incontinence. Her primary care physician deemed this to also be the result of the autonomic dysfunction seen with diabetic neuropathy. At this time she also started stumbling and having trouble walking up and down stairs. The following year the patient underwent a gastric bypass surgery and successfully lost over 100 pounds but did not see improvement in her walking. She felt her 17-year history of chronic depressive disorder had worsened despite selective serotonin reuptake inhibitors therapy. At this time she was placed on valproic acid for psychotic features associated with her depressive disorder described as visual hallucinations. These mostly consisted of seeing items race across the floor or hearing music playing. Occasionally she reported seeing her husband in doorways when she knew him not to be in the house. Over time she began to report more falls and presyncopal dizziness. This presyncope once progressed to a total loss of consciousness which resulted in a motor vehicle accident without significant injury. She reported worsening vision over the next couple of years but was known to have complicated diabetic retinopathy and had undergone several MK-0752 laser procedures in the past. Approximately 5?years after the onset of symptoms she was referred to a local neurologist. During his examination he observed sensory ataxia secondary to a sensorimotor polyneuropathy chronic supranuclear ophthalmoplegia and a resting tremor of her right hand. This neurologist was concerned that her presentation represented Parkinson’s disease with autonomic dysfunction and referred her to our centre. On initial presentation to our Rabbit Polyclonal to GAB2. Movement Disorders Centre the patient’s general examination was unremarkable. Neurological MK-0752 examination revealed a supranuclear ophthamoplegia with restricted eye movements only recoverable with the doll’s eyes maneuver. She displayed bilateral ptosis and marked temporal muscle wasting. The rest of her cranial nerve examination was without deficit. Her sensory examination found loss of pinprick sensation temperature and vibration bilaterally up to her hips. She had bilateral vibration loss at her fingertips. She had loss of proprioception at her toes. Her gait was very wide based and swaying. She had bilateral dysdiadochokinesia with significant ataxia on finger to nose testing. She had a bilateral resting tremor in her.